DBH

dopamine beta-hydroxylase

Summary

The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders. [provided by RefSeq, Aug 2017]

Known Variants442 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs71505214	9:136,495,230	C/T	—	benign
rs118011316	9:136,499,569	T/C	upstream gene variant	—
rs139584056	9:136,499,746	C/T	upstream gene variant	—
rs1611114	9:136,500,203	C/T	upstream gene variant	—
rs1611115	9:136,500,515	T/C	upstream gene variant	association
rs758863303	9:136,501,500	G/T	—	uncertain significance
rs2538334073	9:136,501,503	C/T	—	uncertain significance
rs111514228	9:136,501,509	C/A	—	uncertain significance
rs781667738	9:136,501,510	G/A	—	uncertain significance
rs1191237522	9:136,501,519	G/A	—	uncertain significance
rs780246471	9:136,501,526	C/T	—	likely benign
rs963604579	9:136,501,540	G/A	—	uncertain significance
rs1381096496	9:136,501,554	A/G	—	uncertain significance
rs770621845	9:136,501,555	T/C	—	uncertain significance
rs76856960	9:136,501,569	G/A	—	likely benign
rs1832053358	9:136,501,580	C/T	—	likely benign
rs368414868	9:136,501,581	C/T	—	likely benign
rs140025171	9:136,501,598	C/T	—	likely benign
rs143544421	9:136,501,599	G/A	—	uncertain significance
rs200378894	9:136,501,613	G/A	—	likely benign
rs779109570	9:136,501,621	G/A	—	uncertain significance
rs745685569	9:136,501,639	A/G	—	uncertain significance
rs1832054587	9:136,501,646	C/G	—	uncertain significance
rs139591190	9:136,501,658	G/A	—	conflicting classifications of pathogenicity
rs756555116	9:136,501,676	C/T	—	likely benign
rs374987238	9:136,501,697	C/A	—	likely benign
rs79634194	9:136,501,702	A/G	—	likely benign
rs2538334541	9:136,501,710	C/T	—	uncertain significance
rs2538334557	9:136,501,717	A/C	—	uncertain significance
rs781202782	9:136,501,721	C/G	—	likely benign
rs1832055678	9:136,501,724	G/A	—	likely benign
rs77273740	9:136,501,728	C/T	—	likely benign
rs756380496	9:136,501,729	G/A	—	uncertain significance
rs151085828	9:136,501,730	G/A	—	likely benign
rs2131281279	9:136,501,738	A/G	—	uncertain significance
rs78445536	9:136,501,746	G/A	—	uncertain significance
rs761327487	9:136,501,752	T/C	—	uncertain significance
rs3025380	9:136,501,756	G/C	—	likely benign
rs371339885	9:136,501,763	C/T	—	likely benign
rs147944557	9:136,501,764	G/A	—	uncertain significance
rs141137998	9:136,501,767	C/T	—	uncertain significance
rs146922432	9:136,501,768	G/A	—	uncertain significance
rs779789789	9:136,501,772	C/T	—	likely benign
rs201987478	9:136,501,783	A/G	—	uncertain significance
rs75734048	9:136,501,784	C/T	—	conflicting classifications of pathogenicity
rs2131281349	9:136,501,792	T/C	—	uncertain significance
rs143504054	9:136,501,793	C/T	—	likely benign
rs267606760	9:136,501,794	G/A	missense variant	pathogenic
rs143151641	9:136,501,808	C/T	—	benign
rs148244950	9:136,501,809	G/A	—	uncertain significance
rs200004135	9:136,501,815	G/T	—	likely benign
rs764135068	9:136,501,819	C/T	—	uncertain significance
rs368339648	9:136,501,830	G/T	—	uncertain significance
rs377299166	9:136,501,831	C/T	—	uncertain significance
rs747816048	9:136,501,832	G/A	—	uncertain significance
rs74853476	9:136,501,834	T/C	splice region variant	pathogenic
rs2797849	9:136,501,941	G/C	—	benign
rs3025382	9:136,502,321	G/A	regulatory region variant	—
rs3025386	9:136,502,764	T/C	regulatory region variant	—
rs2007153	9:136,503,819	T/C	intron variant	—
rs12001868	9:136,504,074	G/A	intron variant	—
rs118167234	9:136,504,635	A/C	intron variant	—
rs1611118	9:136,504,923	C/T	—	benign
rs780623251	9:136,504,950	C/A	—	likely benign
rs77576840	9:136,504,970	C/A	missense variant	uncertain significance
rs768803872	9:136,504,971	G/A	—	uncertain significance
rs199898782	9:136,504,982	C/T	—	conflicting classifications of pathogenicity
rs763997950	9:136,504,991	G/A	—	uncertain significance
rs1564208129	9:136,505,008	C/T	—	uncertain significance
rs377569556	9:136,505,009	C/T	—	likely benign
rs1268865720	9:136,505,010	C/T	—	pathogenic
rs886063657	9:136,505,035	T/C	—	conflicting classifications of pathogenicity
rs752479831	9:136,505,036	G/A	—	likely benign
rs78929918	9:136,505,046	C/T	—	uncertain significance
rs2538338015	9:136,505,057	G/C	—	likely benign
rs150007277	9:136,505,078	C/T	—	uncertain significance
rs1832098877	9:136,505,089	G/A	—	uncertain significance
rs145378879	9:136,505,090	C/T	—	likely benign
rs773297382	9:136,505,095	C/T	—	uncertain significance
rs2131283456	9:136,505,096	C/T	—	likely benign
rs760684018	9:136,505,098	A/C	—	uncertain significance
rs1108580	9:136,505,114	A/G	splice region variant	benign
rs1611119	9:136,505,127	C/T	—	benign
rs767097532	9:136,505,128	G/A	—	likely benign
rs749887039	9:136,505,129	C/T	—	uncertain significance
rs755580405	9:136,505,130	G/A	—	likely benign
rs1108581	9:136,505,241	G/A	—	benign
rs548685398	9:136,506,609	C/T	—	—
rs1611120	9:136,507,301	G/A	—	benign
rs765777697	9:136,507,320	C/T	—	likely benign
rs753380045	9:136,507,321	G/T	—	likely benign
rs765749614	9:136,507,331	C/T	—	likely benign
rs142383279	9:136,507,332	G/A	—	uncertain significance
rs2538340292	9:136,507,333	G/A	—	uncertain significance
rs749447929	9:136,507,353	G/A	—	uncertain significance
rs1415046004	9:136,507,362	G/A	—	uncertain significance
rs774430399	9:136,507,369	C/T	—	uncertain significance
rs551376703	9:136,507,370	G/A	—	likely benign
rs771747983	9:136,507,374	C/T	—	uncertain significance
rs76819676	9:136,507,375	G/A	—	benign

Showing 100 of 442 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.